ClinVar Miner

List of variants reported as likely pathogenic for KCNQ2-related epileptic encephalopathy by NeuroMeGen,Hospital Clinico Santiago de Compostela

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_172107.4(KCNQ2):c.1016T>A (p.Leu339Gln) rs118192217
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020
NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr) rs1555871832
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser) rs1555870554
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728

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